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Test Catalog
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Febrile seizures, which are often prolonged or focal, and afebrile hemiclonic or generalized seizures in the first year of life. Patients usually develop other symptoms after age one, including myoclonic, absences, atonic, and partial seizures. |
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| Disease(s) tested for: |
Severe Myoclonic Epilepsy of Infancy (SMEI), Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
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| Test Details |
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| Test Code: |
537 |
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| Profiles that contain this test: |
Febrile Seizures Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects exonic deletions in the SCN1A gene |
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| Methodology: |
Multiplex-Ligation Probe Amplification |
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| Reference Value: |
No deletions detected |
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| CPT Code(s): |
83891(1), 83896(26), 83900(1), 83901(24), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
21-28 days |
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